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Treatment of myoclonic-atonic epilepsy caused by SLC2A1 de novo mutation with ketogenic diet: A case report

RATIONALE: The SLC2A1 gene encodes glucose transporter 1 on blood–brain barrier, which plays an important role in the energy supply for neurons. Mutations in SLC2A1 gene can cause many clinical syndromes, including glucose transporter type 1 deficiency syndrome and many types of epilepsy syndromes s...

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Detalles Bibliográficos
Autores principales: Wei, Zihan, Wang, Luojun, Deng, Yanchun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6504322/
https://www.ncbi.nlm.nih.gov/pubmed/31045803
http://dx.doi.org/10.1097/MD.0000000000015428